MSH5_HUMAN
ID MSH5_HUMAN Reviewed; 834 AA.
AC O43196; B0V033; B0V034; O60586; Q5BLU9; Q5SSR1; Q8IW44; Q9BQC7;
DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-1998, sequence version 1.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=MutS protein homolog 5;
DE Short=hMSH5;
GN Name=MSH5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND TISSUE
RP SPECIFICITY.
RX PubMed=9740671; DOI=10.1006/geno.1998.5374;
RA Her C., Doggett N.A.;
RT "Cloning, structural characterization, and chromosomal localization of the
RT human orthologue of Saccharomyces cerevisiae MSH5 gene.";
RL Genomics 52:50-61(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=10029069;
RA Bocker T., Barusevicius A., Snowden T., Rasio D., Guerrette S., Robbins D.,
RA Schmidt C., Burczak J., Croce C.M., Copeland T., Kovatich A.J., Fishel R.;
RT "hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4
RT and is expressed during spermatogenesis.";
RL Cancer Res. 59:816-822(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RX PubMed=9787078; DOI=10.1006/geno.1998.5447;
RA Winand N.J., Panzer J.A., Kolodner R.D.;
RT "Cloning and characterization of the human and Caenorhabditis elegans
RT homologs of the Saccharomyces cerevisiae MSH5 gene.";
RL Genomics 53:69-80(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-29; PHE-85; CYS-202;
RP PHE-206; GLY-351; PHE-377 AND SER-786.
RG NIEHS SNPs program;
RL Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Hirakawa M., Yamaguchi H., Imai K., Shimada J., Shiina S., Tamiya G.,
RA Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14656967; DOI=10.1101/gr.1736803;
RA Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D.,
RA Hood L.;
RT "Analysis of the gene-dense major histocompatibility complex class III
RT region and its comparison to mouse.";
RL Genome Res. 13:2621-2636(2003).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC TISSUE=Kidney, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [11]
RP INTERACTION WITH HJURP.
RX PubMed=17823411; DOI=10.1158/0008-5472.can-07-1307;
RA Kato T., Sato N., Hayama S., Yamabuki T., Ito T., Miyamoto M., Kondo S.,
RA Nakamura Y., Daigo Y.;
RT "Activation of Holliday junction recognizing protein involved in the
RT chromosomal stability and immortality of cancer cells.";
RL Cancer Res. 67:8544-8553(2007).
RN [12]
RP INVOLVEMENT IN POF13, VARIANTS POF13 MET-353; TYR-487 AND VAL-703, AND
RP TISSUE SPECIFICITY.
RX PubMed=28175301; DOI=10.1093/hmg/ddx044;
RA Guo T., Zhao S., Zhao S., Chen M., Li G., Jiao X., Wang Z., Zhao Y.,
RA Qin Y., Gao F., Chen Z.J.;
RT "Mutations in MSH5 in Primary Ovarian Insufficiency.";
RL Hum. Mol. Genet. 26:1452-1457(2017).
CC -!- FUNCTION: Involved in DNA mismatch repair and meiotic recombination
CC processes. Facilitates crossovers between homologs during meiosis (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Heterooligomer of MSH4 and MSH5. Interacts with HJURP.
CC {ECO:0000269|PubMed:17823411}.
CC -!- INTERACTION:
CC O43196; P00519: ABL1; NbExp=10; IntAct=EBI-6092730, EBI-375543;
CC O43196; O15457: MSH4; NbExp=5; IntAct=EBI-6092730, EBI-6092777;
CC O43196-2; P50570-2: DNM2; NbExp=3; IntAct=EBI-25844576, EBI-10968534;
CC O43196-2; Q8TB36: GDAP1; NbExp=3; IntAct=EBI-25844576, EBI-11110431;
CC O43196-2; P51608: MECP2; NbExp=3; IntAct=EBI-25844576, EBI-1189067;
CC O43196-2; Q16637: SMN2; NbExp=3; IntAct=EBI-25844576, EBI-395421;
CC O43196-2; O14656-2: TOR1A; NbExp=3; IntAct=EBI-25844576, EBI-25847109;
CC O43196-4; P28799: GRN; NbExp=3; IntAct=EBI-25860238, EBI-747754;
CC O43196-4; P42858: HTT; NbExp=3; IntAct=EBI-25860238, EBI-466029;
CC O43196-4; I6L9F6: NEFL; NbExp=3; IntAct=EBI-25860238, EBI-10178578;
CC O43196-4; O43933: PEX1; NbExp=3; IntAct=EBI-25860238, EBI-988601;
CC O43196-4; O76024: WFS1; NbExp=3; IntAct=EBI-25860238, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=O43196-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O43196-2; Sequence=VSP_017114;
CC Name=3;
CC IsoId=O43196-3; Sequence=VSP_017113;
CC Name=4;
CC IsoId=O43196-4; Sequence=VSP_017113, VSP_017114, VSP_017115;
CC -!- TISSUE SPECIFICITY: Widely expressed, with high levels in testis and
CC ovary, including granulosa cells (PubMed:9740671, PubMed:28175301).
CC Also expressed in fetal ovary and adrenal gland (PubMed:28175301).
CC {ECO:0000269|PubMed:28175301, ECO:0000269|PubMed:9740671}.
CC -!- DISEASE: Premature ovarian failure 13 (POF13) [MIM:617442]: An ovarian
CC disorder defined as the cessation of ovarian function under the age of
CC 40 years. It is characterized by oligomenorrhea or amenorrhea, in the
CC presence of elevated levels of serum gonadotropins and low estradiol.
CC {ECO:0000269|PubMed:28175301}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the DNA mismatch repair MutS family.
CC {ECO:0000305}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/msh5/";
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DR EMBL; AF048986; AAC62533.1; -; mRNA.
DR EMBL; AF048991; AAC62534.1; -; Genomic_DNA.
DR EMBL; AF048988; AAC62534.1; JOINED; Genomic_DNA.
DR EMBL; AF048989; AAC62534.1; JOINED; Genomic_DNA.
DR EMBL; AF048990; AAC62534.1; JOINED; Genomic_DNA.
DR EMBL; AF034759; AAB87632.1; -; mRNA.
DR EMBL; AF070071; AAC70066.1; -; mRNA.
DR EMBL; AF070079; AAC70067.1; -; Genomic_DNA.
DR EMBL; AF070072; AAC70067.1; JOINED; Genomic_DNA.
DR EMBL; AF070073; AAC70067.1; JOINED; Genomic_DNA.
DR EMBL; AF070074; AAC70067.1; JOINED; Genomic_DNA.
DR EMBL; AF070075; AAC70067.1; JOINED; Genomic_DNA.
DR EMBL; AF070076; AAC70067.1; JOINED; Genomic_DNA.
DR EMBL; AF070077; AAC70067.1; JOINED; Genomic_DNA.
DR EMBL; AF070078; AAC70067.1; JOINED; Genomic_DNA.
DR EMBL; BT007200; AAP35864.1; -; mRNA.
DR EMBL; AY943816; AAX20111.1; -; Genomic_DNA.
DR EMBL; BA000025; BAB63375.1; -; Genomic_DNA.
DR EMBL; AF129756; AAD18072.1; -; Genomic_DNA.
DR EMBL; AF134726; AAD21822.1; -; Genomic_DNA.
DR EMBL; AL662834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662899; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR759787; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR925765; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR936239; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03512.1; -; Genomic_DNA.
DR EMBL; CH471081; EAX03514.1; -; Genomic_DNA.
DR EMBL; BC001358; AAH01358.1; -; mRNA.
DR EMBL; BC002498; AAH02498.1; -; mRNA.
DR EMBL; BC041031; AAH41031.1; -; mRNA.
DR CCDS; CCDS34409.2; -. [O43196-4]
DR CCDS; CCDS34410.1; -. [O43196-2]
DR CCDS; CCDS4720.1; -. [O43196-1]
DR RefSeq; NP_002432.1; NM_002441.4. [O43196-1]
DR RefSeq; NP_079535.4; NM_025259.5. [O43196-4]
DR RefSeq; NP_751897.1; NM_172165.3. [O43196-2]
DR RefSeq; NP_751898.1; NM_172166.3. [O43196-1]
DR AlphaFoldDB; O43196; -.
DR SMR; O43196; -.
DR BioGRID; 110576; 45.
DR CORUM; O43196; -.
DR IntAct; O43196; 18.
DR MINT; O43196; -.
DR STRING; 9606.ENSP00000364855; -.
DR iPTMnet; O43196; -.
DR PhosphoSitePlus; O43196; -.
DR BioMuta; MSH5; -.
DR EPD; O43196; -.
DR jPOST; O43196; -.
DR MassIVE; O43196; -.
DR MaxQB; O43196; -.
DR PaxDb; O43196; -.
DR PeptideAtlas; O43196; -.
DR PRIDE; O43196; -.
DR ProteomicsDB; 48810; -. [O43196-1]
DR ProteomicsDB; 48811; -. [O43196-2]
DR ProteomicsDB; 48812; -. [O43196-3]
DR ProteomicsDB; 48813; -. [O43196-4]
DR Antibodypedia; 27625; 190 antibodies from 28 providers.
DR DNASU; 4439; -.
DR Ensembl; ENST00000375703.7; ENSP00000364855.3; ENSG00000204410.16. [O43196-2]
DR Ensembl; ENST00000375740.7; ENSP00000364892.3; ENSG00000204410.16. [O43196-4]
DR Ensembl; ENST00000375750.9; ENSP00000364903.3; ENSG00000204410.16. [O43196-1]
DR Ensembl; ENST00000375755.8; ENSP00000364908.3; ENSG00000204410.16. [O43196-1]
DR Ensembl; ENST00000412070.5; ENSP00000404892.1; ENSG00000230961.10.
DR Ensembl; ENST00000416549.5; ENSP00000399721.1; ENSG00000235222.12. [O43196-1]
DR Ensembl; ENST00000419269.5; ENSP00000394649.1; ENSG00000235222.12. [O43196-2]
DR Ensembl; ENST00000420731.5; ENSP00000400187.1; ENSG00000230961.10.
DR Ensembl; ENST00000427735.5; ENSP00000388037.1; ENSG00000230293.11. [O43196-1]
DR Ensembl; ENST00000435700.5; ENSP00000407047.1; ENSG00000230293.11. [O43196-2]
DR Ensembl; ENST00000436091.5; ENSP00000396509.1; ENSG00000230961.10.
DR Ensembl; ENST00000436192.6; ENSP00000406868.1; ENSG00000227314.12. [O43196-2]
DR Ensembl; ENST00000441395.5; ENSP00000402659.1; ENSG00000227314.12. [O43196-1]
DR Ensembl; ENST00000441401.6; ENSP00000406269.2; ENSG00000227314.12. [O43196-1]
DR Ensembl; ENST00000448617.6; ENSP00000387609.2; ENSG00000227314.12. [O43196-4]
DR Ensembl; ENST00000456839.6; ENSP00000394017.2; ENSG00000235222.12. [O43196-1]
DR Ensembl; ENST00000457742.6; ENSP00000409181.2; ENSG00000230293.11. [O43196-1]
DR GeneID; 4439; -.
DR KEGG; hsa:4439; -.
DR MANE-Select; ENST00000375750.9; ENSP00000364903.3; NM_172166.4; NP_751898.1.
DR UCSC; uc003nwu.3; human. [O43196-1]
DR CTD; 4439; -.
DR DisGeNET; 4439; -.
DR GeneCards; MSH5; -.
DR HGNC; HGNC:7328; MSH5.
DR HPA; ENSG00000204410; Tissue enhanced (testis).
DR MalaCards; MSH5; -.
DR MIM; 603382; gene.
DR MIM; 617442; phenotype.
DR neXtProt; NX_O43196; -.
DR OpenTargets; ENSG00000204410; -.
DR OpenTargets; ENSG00000255152; -.
DR Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
DR PharmGKB; PA31136; -.
DR VEuPathDB; HostDB:ENSG00000204410; -.
DR eggNOG; KOG0221; Eukaryota.
DR GeneTree; ENSGT00550000074977; -.
DR HOGENOM; CLU_002472_8_0_1; -.
DR InParanoid; O43196; -.
DR OMA; VIEYTAH; -.
DR PhylomeDB; O43196; -.
DR TreeFam; TF314549; -.
DR PathwayCommons; O43196; -.
DR Reactome; R-HSA-912446; Meiotic recombination.
DR SignaLink; O43196; -.
DR BioGRID-ORCS; 4439; 10 hits in 1075 CRISPR screens.
DR GeneWiki; MSH5; -.
DR GenomeRNAi; 4439; -.
DR Pharos; O43196; Tbio.
DR PRO; PR:O43196; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; O43196; protein.
DR Bgee; ENSG00000204410; Expressed in right uterine tube and 94 other tissues.
DR ExpressionAtlas; O43196; baseline and differential.
DR Genevisible; O43196; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0140664; F:ATP-dependent DNA damage sensor activity; IEA:InterPro.
DR GO; GO:0003690; F:double-stranded DNA binding; IBA:GO_Central.
DR GO; GO:0030983; F:mismatched DNA binding; IEA:InterPro.
DR GO; GO:0051026; P:chiasma assembly; IBA:GO_Central.
DR GO; GO:0006298; P:mismatch repair; IEA:InterPro.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR011184; DNA_mismatch_repair_Msh2.
DR InterPro; IPR000432; DNA_mismatch_repair_MutS_C.
DR InterPro; IPR007861; DNA_mismatch_repair_MutS_clamp.
DR InterPro; IPR007696; DNA_mismatch_repair_MutS_core.
DR InterPro; IPR036187; DNA_mismatch_repair_MutS_sf.
DR InterPro; IPR045076; MutS_family.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR11361; PTHR11361; 1.
DR Pfam; PF05192; MutS_III; 1.
DR Pfam; PF05190; MutS_IV; 1.
DR Pfam; PF00488; MutS_V; 1.
DR PIRSF; PIRSF005813; MSH2; 1.
DR SMART; SM00534; MUTSac; 1.
DR SMART; SM00533; MUTSd; 1.
DR SUPFAM; SSF48334; SSF48334; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS00486; DNA_MISMATCH_REPAIR_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Disease variant; DNA damage; DNA repair;
KW DNA-binding; Meiosis; Nucleotide-binding; Premature ovarian failure;
KW Reference proteome.
FT CHAIN 1..834
FT /note="MutS protein homolog 5"
FT /id="PRO_0000115202"
FT REGION 1..44
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 592..599
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VAR_SEQ 179
FT /note="T -> TPPGDLRFTPIPLLIPSQ (in isoform 3 and isoform
FT 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017113"
FT VAR_SEQ 654
FT /note="Q -> QQ (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.4"
FT /id="VSP_017114"
FT VAR_SEQ 745..774
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017115"
FT VARIANT 29
FT /note="P -> S (in dbSNP:rs2075789)"
FT /evidence="ECO:0000269|Ref.5"
FT /id="VAR_025082"
FT VARIANT 85
FT /note="L -> F (in dbSNP:rs28381349)"
FT /evidence="ECO:0000269|Ref.5"
FT /id="VAR_025083"
FT VARIANT 202
FT /note="Y -> C (in dbSNP:rs28381358)"
FT /evidence="ECO:0000269|Ref.5"
FT /id="VAR_025084"
FT VARIANT 206
FT /note="V -> F (in dbSNP:rs28381359)"
FT /evidence="ECO:0000269|Ref.5"
FT /id="VAR_025085"
FT VARIANT 351
FT /note="R -> G (in dbSNP:rs28399976)"
FT /evidence="ECO:0000269|Ref.5"
FT /id="VAR_025086"
FT VARIANT 353
FT /note="L -> M (in POF13; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:28175301"
FT /id="VAR_078116"
FT VARIANT 377
FT /note="L -> F (in dbSNP:rs28399977)"
FT /evidence="ECO:0000269|Ref.5"
FT /id="VAR_025087"
FT VARIANT 487
FT /note="D -> Y (in POF13; decreased function in DNA repair
FT as suggested by the persistence of gamma-H2AX foci
FT following cell treatment with etoposide;
FT dbSNP:rs1060505055)"
FT /evidence="ECO:0000269|PubMed:28175301"
FT /id="VAR_078117"
FT VARIANT 703
FT /note="I -> V (in POF13; unknown pathological significance;
FT dbSNP:rs752657544)"
FT /evidence="ECO:0000269|PubMed:28175301"
FT /id="VAR_078118"
FT VARIANT 786
FT /note="P -> S (in dbSNP:rs1802127)"
FT /evidence="ECO:0000269|Ref.5"
FT /id="VAR_025088"
FT CONFLICT 764
FT /note="P -> L (in Ref. 1; AAC62533)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 834 AA; 92875 MW; 89E747F5361870E2 CRC64;
MASLGANPRR TPQGPRPGAA SSGFPSPAPV PGPREAEEEE VEEEEELAEI HLCVLWNSGY
LGIAYYDTSD STIHFMPDAP DHESLKLLQR VLDEINPQSV VTSAKQDENM TRFLGKLASQ
EHREPKRPEI IFLPSVDFGL EISKQRLLSG NYSFIPDAMT ATEKILFLSS IIPFDCLLTV
RALGGLLKFL GRRRIGVELE DYNVSVPILG FKKFMLTHLV NIDQDTYSVL QIFKSESHPS
VYKVASGLKE GLSLFGILNR CHCKWGEKLL RLWFTRPTHD LGELSSRLDV IQFFLLPQNL
DMAQMLHRLL GHIKNVPLIL KRMKLSHTKV SDWQVLYKTV YSALGLRDAC RSLPQSIQLF
RDIAQEFSDD LHHIASLIGK VVDFEGSLAE NRFTVLPNID PEIDEKKRRL MGLPSFLTEV
ARKELENLDS RIPSCSVIYI PLIGFLLSIP RLPSMVEASD FEINGLDFMF LSEEKLHYRS
ARTKELDALL GDLHCEIRDQ ETLLMYQLQC QVLARAAVLT RVLDLASRLD VLLALASAAR
DYGYSRPRYS PQVLGVRIQN GRHPLMELCA RTFVPNSTEC GGDKGRVKVI TGPNSSGKSI
YLKQVGLITF MALVGSFVPA EEAEIGAVDA IFTRIHSCES ISLGLSTFMI DLNQVAKAVN
NATAQSLVLI DEFGKGTNTV DGLALLAAVL RHWLARGPTC PHIFVATNFL SLVQLQLLPQ
GPLVQYLTME TCEDGNDLVF FYQVCEGVAK ASHASHTAAQ AGLPDKLVAR GKEVSDLIRS
GKPIKPVKDL LKKNQMENCQ TLVDKFMKLD LEDPNLDLNV FMSQEVLPAA TSIL
